Varaico: Literature-Extracted Genetic Variants

Gene:MYOC
Variant:p.W28*
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MYOC

NM_000261.2:p.W28*

Associated Papers

Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.

Sazhnyev Y et al.

Genes, 2024

38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1

MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal.

Silva F et al.

Acta Medica Portuguesa, 2021

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Park J et al.

Molecular Medicine Reports, 2016

A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.

Kuchtey J et al.

European Journal of Medical Genetics, 2013

Lack of association of apolipoprotein E (Apo E) ε2/ε3/ε4 polymorphisms with primary open-angle glaucoma: a meta-analysis from 1916 cases and 1756 controls.

Wang W et al.

Plos One, 2013

Comprehensive analysis of myocilin variants in east Indian POAG patients.

Banerjee D et al.

Molecular Vision, 2012

Myocilin mutations in black South Africans with POAG.

Whigham BT et al.

Molecular Vision, 2011

MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Tanwar M et al.

Molecular Vision, 2010

Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.

Elahi E et al.

Journal of Ophthalmic & Vision Research, 2010

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.

Jia LY et al.

Investigative Ophthalmology & Visual Science, 2009

Glaucoma-associated myocilin: a better understanding but much more to learn.

Resch ZT et al.

Experimental Eye Research, 2009

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Jia LY et al.

Molecular Vision, 2009

Contributions of MYOC and CYP1B1 mutations to JOAG.

Bayat B et al.

Molecular Vision, 2008

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Lopez-Martinez F et al.

Molecular Vision, 2007

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

Gene mapping for primary open angle glaucoma.

Fan BJ et al.

Clinical Biochemistry, 2006

Myocilin gene implicated in primary congenital glaucoma.

Kaur K et al.

Clinical Genetics, 2005

Mutations including the promoter region of myocilin/TIGR gene.

Saura M et al.

European Journal of Human Genetics : Ejhg, 2005

Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.

Chakrabarti S et al.

Molecular Vision, 2005

Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.

Fan BJ et al.

Journal of Glaucoma, 2004

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

Reddy AB et al.

Molecular Vision, 2004

[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].

Fan BJ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Recent advances in molecular genetics of glaucoma.

Ray K et al.

Molecular and Cellular Biochemistry, 2003

Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

Chakrabarti S et al.

Human Genetics, 2003

Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.

Melki R et al.

Human Mutation, 2003

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."